-
2
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: A review
-
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R, Hirschsprung Disease Consortium. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008;45:1-14.
-
(2008)
J Med Genet
, vol.45
, pp. 1-14
-
-
Amiel, J.1
Sproat-Emison, E.2
Garcia-Barcelo, M.3
Lantieri, F.4
Burzynski, G.5
Borrego, S.6
Pelet, A.7
Arnold, S.8
Miao, X.9
Griseri, P.10
Brooks, A.S.11
Antinolo, G.12
De Pontual, L.13
Clement-Ziza, M.14
Munnich, A.15
Kashuk, C.16
West, K.17
Wong, K.K.18
Lyonnet, S.19
Chakravarti, A.20
Tam, P.K.21
Ceccherini, I.22
Hofstra, R.M.23
Fernandez, R.24
Consortium, H.D.25
more..
-
3
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
DOI 10.1073/pnas.97.1.268
-
Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 2000;97:268-273 (Pubitemid 30055820)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.1
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.W.3
Angrist, M.4
Salomon, R.5
Croaker, D.6
Buys, C.H.C.M.7
Lyonnet, S.8
Chakravarti, A.9
-
4
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
DOI 10.1038/ng868
-
Gabriel S, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002;31:89-93. (Pubitemid 34887645)
-
(2002)
Nature Genetics
, vol.31
, Issue.1
, pp. 89-93
-
-
Gabriel, S.B.1
Salomon, R.2
Pelet, A.3
Angrist, M.4
Amiel, J.5
Fornage, M.6
Attie-Bitach, T.7
Olson, J.M.8
Hofstra, R.9
Buys, C.10
Steffann, J.11
Munnich, A.12
Lyonnet, S.13
Chakravarti, A.14
-
5
-
-
0030029691
-
Endothelin receptor-mediated signaling in Hirschsprung disease
-
Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 1996;5:303-307 (Pubitemid 26069573)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.3
, pp. 303-307
-
-
Chakravarti, A.1
-
6
-
-
0032938812
-
Inhibition of in vitro enteric neuronal development by endothelin-3: Mediation by endothelin B receptors
-
Wu JJ, Chen JX, Rothman TP, Gershon MD. Inhibition of in vitro enteric neuronal development by endothelin-3: mediation by endothelin B receptors. Development 1999;126:1161-1173
-
(1999)
Development
, vol.126
, pp. 1161-1173
-
-
Wu, J.J.1
Chen, J.X.2
Rothman, T.P.3
Gershon, M.D.4
-
7
-
-
33746027408
-
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
-
Stanchina L, Baral V, Robert F, Pingault V, Lemort N, Pachnis V, Goossens M, Bondurand N. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Dev Biol 2006;295:232-249
-
(2006)
Dev Biol
, vol.295
, pp. 232-249
-
-
Stanchina, L.1
Baral, V.2
Robert, F.3
Pingault, V.4
Lemort, N.5
Pachnis, V.6
Goossens, M.7
Bondurand, N.8
-
8
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
DOI 10.1038/ng0496-442
-
Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-444 (Pubitemid 26105938)
-
(1996)
Nature Genetics
, vol.12
, Issue.4
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.W.6
Martelli, H.7
Bidaud, C.8
Munnich, A.9
Lyonnet, S.10
-
9
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
DOI 10.1038/ng0496-445
-
Hofstra R, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-447 (Pubitemid 26105939)
-
(1996)
Nature Genetics
, vol.12
, Issue.4
, pp. 445-447
-
-
Hofstra, R.M.W.1
Osinga, J.2
Tan-Sindhunata, G.3
Wu, Y.4
Kamsteeg, E.-J.5
Stulp, R.P.6
Van Ravenswaaij-Art, C.7
Majoor-Krakauer, D.8
Angrist, M.9
Chakravarti, A.10
Meijers, C.11
Buys, C.H.C.M.12
-
10
-
-
12644284522
-
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
-
Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 1997;5:247-251 (Pubitemid 27453907)
-
(1997)
European Journal of Human Genetics
, vol.5
, Issue.4
, pp. 247-251
-
-
Bidaud, C.1
Salomon, R.2
Van Camp, G.3
Pelet, A.4
Attie, T.5
Eng, C.6
Bonduelle, M.7
Amiel, J.8
Nihoul-Fekete, C.9
Willems, P.J.10
Munnich, A.11
Lyonnet, S.12
-
11
-
-
47249114782
-
NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease
-
DOI 10.1016/j.jpedsurg.2008.02.076, PII S0022346808002728
-
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S. NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease. J Pediatr Surg 2008;43:1308-1311 (Pubitemid 351981994)
-
(2008)
Journal of Pediatric Surgery
, vol.43
, Issue.7
, pp. 1308-1311
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Antinolo, G.3
Lopez-Alonso, M.4
Borrego, S.5
-
12
-
-
58149313675
-
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease
-
Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S. A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease. Ann Hum Genet 2008;73:19-25.
-
(2008)
Ann Hum Genet
, vol.73
, pp. 19-25
-
-
Fernández, R.M.1
Sánchez-Mejías, A.2
Mena, M.D.3
Ruiz-Ferrer, M.4
López-Alonso, M.5
Antiñolo, G.6
Borrego, S.7
-
13
-
-
33751079621
-
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes
-
DOI 10.1097/01.gim.0000245632.06064.f1, PII 0012581720061100000005
-
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, López-Alonso M, Eng C, Borrego S. A complex additive model of inheritance for HSCR is supported by both RET mutations and predisposing RET haplotypes. Genet Med 2006;8:704-710 (Pubitemid 44772798)
-
(2006)
Genetics in Medicine
, vol.8
, Issue.11
, pp. 704-710
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Antinolo, G.3
Lopez-Alonso, M.4
Eng, C.5
Borrego, S.6
-
14
-
-
0034061353
-
Reduced endothelin-3 expression in sporadic Hirschsprung disease
-
DOI 10.1046/j.1365-2168.2000.01401.x
-
Kenny SE, Hofstra RM, Buys CH, Vaillant CR, Lloyd DA, Edgar DH. Reduced endothelin-3 expression in sporadic Hirschsprung disease. Br J Surg 2000;87:580-585 (Pubitemid 30261092)
-
(2000)
British Journal of Surgery
, vol.87
, Issue.5
, pp. 580-585
-
-
Kenny, S.E.1
Hofstra, R.M.W.2
Buys, C.H.C.M.3
Vaillant, C.R.4
Lloyd, D.A.5
Edgar, D.H.6
-
15
-
-
0030017530
-
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
-
DOI 10.1038/ng0896-395
-
Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat Genet 1996;13:395-396 (Pubitemid 26256610)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, pp. 395-396
-
-
Bolk, S.1
Angrist, M.2
Xie, J.3
Yanagisawa, M.4
Silvestri, J.M.5
Weese-Mayer, D.E.6
Chakravarti, A.7
-
16
-
-
0347480303
-
Neurotrophin-3 in the development of the enteric nervous system
-
DOI 10.1016/S0079-6123(03)46016-0
-
Chalazonitis A. Neurotrophin-3 in the developmenrt of the enteric nervous system. Prog Brain Res 2004;146:243-263 (Pubitemid 37541387)
-
(2004)
Progress in Brain Research
, vol.146
, pp. 243-263
-
-
Chalazonitis, A.1
|